Sacs^tm1.1Bebr
Targeted Allele Detail

Summary

• Symbol: Sacs^tm1.1Bebr
• Name: sacsin; targeted mutation 1.1, Bernard Brais
• MGI ID: MGI:6294243
• Synonyms: Sacs^R272C
• Gene: Sacs Location: Chr14:61375906-61478144 bp, + strand Genetic Position: Chr14, 32.13 cM
• Alliance: Sacs^tm1.1Bebr page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:273562
• Parent Cell Line: Not Specified (ES Cell)
• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Targeted (Humanized sequence)
• Mutation: Nucleotide substitutions
• Mutation details: The targeting construct contains an FRT-flanked PGK-neo cassette upstream of exon 7 and a point mutation c.816C-T (p.R272C) mutation inserted into exon 7 by site-directed mutagenesis. Flp-mediated recombination removed the FRT-flanked neo cassette. The R272C mutation is assoicated with autosomal recessive spastic ataxia of Charlevoix-Saquenay (ARSACS). (J:273562)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Sacs Mutation: 155 strains or lines available

References

• Original: J:273562 Lariviere R, et al., Sacs R272C missense homozygous mice develop an ataxia phenotype. Mol Brain. 2019 Mar 12;12(1):19
• All: 1 reference(s)